Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135800747_135800784dup | CA536394701 | LCT | c.4690_4727dup (p.Glu1577ProfsTer8) c.2960-2645_2960-2608dup (n.2960-2645_2960-2608dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800748A>C | CA348593183 | LCT | c.4725T>G (p.His1575Gln) c.2960-2610T>G (n.2960-2610T>G) | |
2 | g.135800748A>G | CA429086457 | LCT | c.4725T>C (p.His1575=) c.2960-2610T>C (n.2960-2610T>C) | gnomAD v4 |
2 | g.135800748A>T | CA348593185 | LCT | c.4725T>A (p.His1575Gln) c.2960-2610T>A (n.2960-2610T>A) | |
2 | g.135800749T>A | CA348593187 | LCT | c.4724A>T (p.His1575Leu) c.2960-2611A>T (n.2960-2611A>T) | |
2 | g.135800749T>C | CA348593189 | LCT | c.4724A>G (p.His1575Arg) c.2960-2611A>G (n.2960-2611A>G) | |
2 | g.135800749T>G | CA348593192 | LCT | c.4724A>C (p.His1575Pro) c.2960-2611A>C (n.2960-2611A>C) | |
2 | g.135800750G>A | CA1887783 | LCT | c.4723C>T (p.His1575Tyr) c.2960-2612C>T (n.2960-2612C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800750G>C | CA348593195 | LCT | c.4723C>G (p.His1575Asp) c.2960-2612C>G (n.2960-2612C>G) | |
2 | g.135800750G= | CA1290827638 | LCT | c.4723C= (p.His1575=) c.2960-2612C= (n.2960-2612C=) | |
2 | g.135800750G>T | CA348593198 | LCT | c.4723C>A (p.His1575Asn) c.2960-2612C>A (n.2960-2612C>A) | |
2 | g.135800751A>C | CA429086460 | LCT | c.4722T>G (p.Ala1574=) c.2960-2613T>G (n.2960-2613T>G) | |
2 | g.135800751A>G | CA429086458 | LCT | c.4722T>C (p.Ala1574=) c.2960-2613T>C (n.2960-2613T>C) | |
2 | g.135800751A>T | CA429086459 | LCT | c.4722T>A (p.Ala1574=) c.2960-2613T>A (n.2960-2613T>A) | |
2 | g.135800752G>A | CA348593200 | LCT | c.4721C>T (p.Ala1574Val) c.2960-2614C>T (n.2960-2614C>T) | gnomAD v4 |
2 | g.135800752G>C | CA348593204 | LCT | c.4721C>G (p.Ala1574Gly) c.2960-2614C>G (n.2960-2614C>G) | |
2 | g.135800752G>T | CA348593210 | LCT | c.4721C>A (p.Ala1574Asp) c.2960-2614C>A (n.2960-2614C>A) | |
2 | g.135800753C>A | CA348593213 | LCT | c.4720G>T (p.Ala1574Ser) c.2960-2615G>T (n.2960-2615G>T) | gnomAD v4 |
2 | g.135800753C>G | CA348593214 | LCT | c.4720G>C (p.Ala1574Pro) c.2960-2615G>C (n.2960-2615G>C) | gnomAD v4 |
2 | g.135800753C>T | CA348593217 | LCT | c.4720G>A (p.Ala1574Thr) c.2960-2615G>A (n.2960-2615G>A) | |
2 | g.135800754C>A | CA348593220 | LCT | c.4719G>T (p.Lys1573Asn) c.2960-2616G>T (n.2960-2616G>T) | |
2 | g.135800754C>G | CA348593222 | LCT | c.4719G>C (p.Lys1573Asn) c.2960-2616G>C (n.2960-2616G>C) | |
2 | g.135800754C>T | CA429086461 | LCT | c.4719G>A (p.Lys1573=) c.2960-2616G>A (n.2960-2616G>A) | |
2 | g.135800755T>A | CA348593225 | LCT | c.4718A>T (p.Lys1573Met) c.2960-2617A>T (n.2960-2617A>T) | |
2 | g.135800755T>C | CA348593228 | LCT | c.4718A>G (p.Lys1573Arg) c.2960-2617A>G (n.2960-2617A>G) | |
2 | g.135800755T>G | CA348593229 | LCT | c.4718A>C (p.Lys1573Thr) c.2960-2617A>C (n.2960-2617A>C) | |
2 | g.135800756T>A | CA348593232 | LCT | c.4717A>T (p.Lys1573Ter) c.2960-2618A>T (n.2960-2618A>T) | |
2 | g.135800756T>C | CA348593234 | LCT | c.4717A>G (p.Lys1573Glu) c.2960-2618A>G (n.2960-2618A>G) | |
2 | g.135800756T>G | CA348593237 | LCT | c.4717A>C (p.Lys1573Gln) c.2960-2618A>C (n.2960-2618A>C) | |
2 | g.135800757T>A | CA429086463 | LCT | c.4716A>T (p.Ile1572=) c.2960-2619A>T (n.2960-2619A>T) | |
2 | g.135800757T>C | CA348593239 | LCT | c.4716A>G (p.Ile1572Met) c.2960-2619A>G (n.2960-2619A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800757T>G | CA429086462 | LCT | c.4716A>C (p.Ile1572=) c.2960-2619A>C (n.2960-2619A>C) | dbSNP gnomAD v4 |
2 | g.135800757T= | CA1290827639 | LCT | c.4716A= (p.Ile1572=) c.2960-2619A= (n.2960-2619A=) | |
2 | g.135800758A>C | CA348593241 | LCT | c.4715T>G (p.Ile1572Arg) c.2960-2620T>G (n.2960-2620T>G) | |
2 | g.135800758A>G | CA348593244 | LCT | c.4715T>C (p.Ile1572Thr) c.2960-2620T>C (n.2960-2620T>C) | |
2 | g.135800758A>T | CA348593247 | LCT | c.4715T>A (p.Ile1572Lys) c.2960-2620T>A (n.2960-2620T>A) | |
2 | g.135800759T>A | CA1887784 | LCT | c.4714A>T (p.Ile1572Leu) c.2960-2621A>T (n.2960-2621A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.135800759T>C | CA348593251 | LCT | c.4714A>G (p.Ile1572Val) c.2960-2621A>G (n.2960-2621A>G) | |
2 | g.135800759T>G | CA348593254 | LCT | c.4714A>C (p.Ile1572Leu) c.2960-2621A>C (n.2960-2621A>C) | |
2 | g.135800759T= | CA1290827640 | LCT | c.4714A= (p.Ile1572=) c.2960-2621A= (n.2960-2621A=) | |
2 | g.135800760T>A | CA429086464 | LCT | c.4713A>T (p.Leu1571=) c.2960-2622A>T (n.2960-2622A>T) | |
2 | g.135800760T>C | CA429086465 | LCT | c.4713A>G (p.Leu1571=) c.2960-2622A>G (n.2960-2622A>G) | |
2 | g.135800760T>G | CA429086466 | LCT | c.4713A>C (p.Leu1571=) c.2960-2622A>C (n.2960-2622A>C) | |
2 | g.135800761A>C | CA348593261 | LCT | c.4712T>G (p.Leu1571Arg) c.2960-2623T>G (n.2960-2623T>G) | |
2 | g.135800761A>G | CA348593257 | LCT | c.4712T>C (p.Leu1571Pro) c.2960-2623T>C (n.2960-2623T>C) | |
2 | g.135800761A>T | CA348593260 | LCT | c.4712T>A (p.Leu1571Gln) c.2960-2623T>A (n.2960-2623T>A) | |
2 | g.135800762G>A | CA429086467 | LCT | c.4711C>T (p.Leu1571=) c.2960-2624C>T (n.2960-2624C>T) | |
2 | g.135800762G>C | CA348593263 | LCT | c.4711C>G (p.Leu1571Val) c.2960-2624C>G (n.2960-2624C>G) | |
2 | g.135800762G>T | CA348593265 | LCT | c.4711C>A (p.Leu1571Ile) c.2960-2624C>A (n.2960-2624C>A) | |
2 | g.135800763A= | CA1290827641 | LCT | c.4710T= (p.Asn1570=) c.2960-2625T= (n.2960-2625T=) | |
2 | g.135800763A>C | CA348593268 | LCT | c.4710T>G (p.Asn1570Lys) c.2960-2625T>G (n.2960-2625T>G) | |
2 | g.135800763A>G | CA429086468 | LCT | c.4710T>C (p.Asn1570=) c.2960-2625T>C (n.2960-2625T>C) | dbSNP |
2 | g.135800763A>T | CA348593270 | LCT | c.4710T>A (p.Asn1570Lys) c.2960-2625T>A (n.2960-2625T>A) | |
2 | g.135800764T>A | CA348593274 | LCT | c.4709A>T (p.Asn1570Ile) c.2960-2626A>T (n.2960-2626A>T) | |
2 | g.135800764T>C | CA348593276 | LCT | c.4709A>G (p.Asn1570Ser) c.2960-2626A>G (n.2960-2626A>G) | gnomAD v4 |
2 | g.135800764T>G | CA348593277 | LCT | c.4709A>C (p.Asn1570Thr) c.2960-2626A>C (n.2960-2626A>C) | |
2 | g.135800765T>A | CA348593280 | LCT | c.4708A>T (p.Asn1570Tyr) c.2960-2627A>T (n.2960-2627A>T) | |
2 | g.135800765T>C | CA348593281 | LCT | c.4708A>G (p.Asn1570Asp) c.2960-2627A>G (n.2960-2627A>G) | |
2 | g.135800765T>G | CA348593283 | LCT | c.4708A>C (p.Asn1570His) c.2960-2627A>C (n.2960-2627A>C) | gnomAD v4 |
2 | g.135800766G>A | CA429086469 | LCT | c.4707C>T (p.His1569=) c.2960-2628C>T (n.2960-2628C>T) | gnomAD v4 |
2 | g.135800766G>C | CA348593284 | LCT | c.4707C>G (p.His1569Gln) c.2960-2628C>G (n.2960-2628C>G) | |
2 | g.135800766G>T | CA348593287 | LCT | c.4707C>A (p.His1569Gln) c.2960-2628C>A (n.2960-2628C>A) | |
2 | g.135800767T>A | CA348593290 | LCT | c.4706A>T (p.His1569Leu) c.2960-2629A>T (n.2960-2629A>T) | |
2 | g.135800767T>C | CA348593294 | LCT | c.4706A>G (p.His1569Arg) c.2960-2629A>G (n.2960-2629A>G) | |
2 | g.135800767T>G | CA348593291 | LCT | c.4706A>C (p.His1569Pro) c.2960-2629A>C (n.2960-2629A>C) | |
2 | g.135800768G>A | CA348593296 | LCT | c.4705C>T (p.His1569Tyr) c.2960-2630C>T (n.2960-2630C>T) | gnomAD v4 |
2 | g.135800768G>C | CA348593300 | LCT | c.4705C>G (p.His1569Asp) c.2960-2630C>G (n.2960-2630C>G) | |
2 | g.135800768G>T | CA348593299 | LCT | c.4705C>A (p.His1569Asn) c.2960-2630C>A (n.2960-2630C>A) | gnomAD v4 |
2 | g.135800769G>A | CA429086470 | LCT | c.4704C>T (p.Gly1568=) c.2960-2631C>T (n.2960-2631C>T) | |
2 | g.135800769G>C | CA429086471 | LCT | c.4704C>G (p.Gly1568=) c.2960-2631C>G (n.2960-2631C>G) | |
2 | g.135800769G>T | CA429086472 | LCT | c.4704C>A (p.Gly1568=) c.2960-2631C>A (n.2960-2631C>A) | |
2 | g.135800770C>A | CA348593303 | LCT | c.4703G>T (p.Gly1568Val) c.2960-2632G>T (n.2960-2632G>T) | |
2 | g.135800770C= | CA1290827642 | LCT | c.4703G= (p.Gly1568=) c.2960-2632G= (n.2960-2632G=) | |
2 | g.135800770C>G | CA348593309 | LCT | c.4703G>C (p.Gly1568Ala) c.2960-2632G>C (n.2960-2632G>C) | |
2 | g.135800770C>T | CA348593305 | LCT | c.4703G>A (p.Gly1568Asp) c.2960-2632G>A (n.2960-2632G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800771C>A | CA348593310 | LCT | c.4702G>T (p.Gly1568Cys) c.2960-2633G>T (n.2960-2633G>T) | |
2 | g.135800771C= | CA1290827643 | LCT | c.4702G= (p.Gly1568=) c.2960-2633G= (n.2960-2633G=) | |
2 | g.135800771C>G | CA348593312 | LCT | c.4702G>C (p.Gly1568Arg) c.2960-2633G>C (n.2960-2633G>C) | |
2 | g.135800771C>T | CA56606941 | LCT | c.4702G>A (p.Gly1568Ser) c.2960-2633G>A (n.2960-2633G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800772A>C | CA429086474 | LCT | c.4701T>G (p.Val1567=) c.2960-2634T>G (n.2960-2634T>G) | gnomAD v4 |
2 | g.135800772A>G | CA429086473 | LCT | c.4701T>C (p.Val1567=) c.2960-2634T>C (n.2960-2634T>C) | |
2 | g.135800772A>T | CA429086475 | LCT | c.4701T>A (p.Val1567=) c.2960-2634T>A (n.2960-2634T>A) | |
2 | g.135800773A= | CA1290827644 | LCT | c.4700T= (p.Val1567=) c.2960-2635T= (n.2960-2635T=) | |
2 | g.135800773A>C | CA348593317 | LCT | c.4700T>G (p.Val1567Gly) c.2960-2635T>G (n.2960-2635T>G) | |
2 | g.135800773A>G | CA56606946 | LCT | c.4700T>C (p.Val1567Ala) c.2960-2635T>C (n.2960-2635T>C) | dbSNP |
2 | g.135800773A>T | CA348593320 | LCT | c.4700T>A (p.Val1567Asp) c.2960-2635T>A (n.2960-2635T>A) | |
2 | g.135800774C>A | CA348593325 | LCT | c.4699G>T (p.Val1567Phe) c.2960-2636G>T (n.2960-2636G>T) | gnomAD v4 |
2 | g.135800774C>G | CA348593327 | LCT | c.4699G>C (p.Val1567Leu) c.2960-2636G>C (n.2960-2636G>C) | |
2 | g.135800774C>T | CA348593329 | LCT | c.4699G>A (p.Val1567Ile) c.2960-2636G>A (n.2960-2636G>A) | |
2 | g.135800775A= | CA1290827645 | LCT | c.4698T= (p.Ile1566=) c.2960-2637T= (n.2960-2637T=) | |
2 | g.135800775A>C | CA1887785 | LCT | c.4698T>G (p.Ile1566Met) c.2960-2637T>G (n.2960-2637T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800775A>G | CA429086476 | LCT | c.4698T>C (p.Ile1566=) c.2960-2637T>C (n.2960-2637T>C) | |
2 | g.135800775A>T | CA429086477 | LCT | c.4698T>A (p.Ile1566=) c.2960-2637T>A (n.2960-2637T>A) | |
2 | g.135800776A= | CA1290827646 | LCT | c.4697T= (p.Ile1566=) c.2960-2638T= (n.2960-2638T=) | |
2 | g.135800776A>C | CA348593338 | LCT | c.4697T>G (p.Ile1566Ser) c.2960-2638T>G (n.2960-2638T>G) | |
2 | g.135800776A>G | CA348593335 | LCT | c.4697T>C (p.Ile1566Thr) c.2960-2638T>C (n.2960-2638T>C) | dbSNP gnomAD v4 |
2 | g.135800776A>T | CA348593333 | LCT | c.4697T>A (p.Ile1566Asn) c.2960-2638T>A (n.2960-2638T>A) | |
2 | g.135800777T>A | CA348593340 | LCT | c.4696A>T (p.Ile1566Phe) c.2960-2639A>T (n.2960-2639A>T) | |
2 | g.135800777T>C | CA1887786 | LCT | c.4696A>G (p.Ile1566Val) c.2960-2639A>G (n.2960-2639A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800777T>G | CA348593345 | LCT | c.4696A>C (p.Ile1566Leu) c.2960-2639A>C (n.2960-2639A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800777T= | CA1290827647 | LCT | c.4696A= (p.Ile1566=) c.2960-2639A= (n.2960-2639A=) | |
2 | g.135800778G>A | CA10610769 | LCT | c.4695C>T (p.Tyr1565=) c.2960-2640C>T (n.2960-2640C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800778G>C | CA348593348 | LCT | c.4695C>G (p.Tyr1565Ter) c.2960-2640C>G (n.2960-2640C>G) | |
2 | g.135800778G= | CA1290827648 | LCT | c.4695C= (p.Tyr1565=) c.2960-2640C= (n.2960-2640C=) | |
2 | g.135800778G>T | CA348593350 | LCT | c.4695C>A (p.Tyr1565Ter) c.2960-2640C>A (n.2960-2640C>A) | |
2 | g.135800779T>A | CA348593354 | LCT | c.4694A>T (p.Tyr1565Phe) c.2960-2641A>T (n.2960-2641A>T) | |
2 | g.135800779T>C | CA348593355 | LCT | c.4694A>G (p.Tyr1565Cys) c.2960-2641A>G (n.2960-2641A>G) | |
2 | g.135800779T>G | CA348593357 | LCT | c.4694A>C (p.Tyr1565Ser) c.2960-2641A>C (n.2960-2641A>C) | |
2 | g.135800779_135800780insG | CA645528838 | LCT | c.4693_4694insC (p.Tyr1565SerfsTer13) c.2960-2642_2960-2641insC (n.2960-2642_2960-2641insC) | COSMIC |
2 | g.135800780A= | CA1290827649 | LCT | c.4693T= (p.Tyr1565=) c.2960-2642T= (n.2960-2642T=) | |
2 | g.135800780A>C | CA348593358 | LCT | c.4693T>G (p.Tyr1565Asp) c.2960-2642T>G (n.2960-2642T>G) | |
2 | g.135800780A>G | CA348593361 | LCT | c.4693T>C (p.Tyr1565His) c.2960-2642T>C (n.2960-2642T>C) | |
2 | g.135800780A>T | CA348593364 | LCT | c.4693T>A (p.Tyr1565Asn) c.2960-2642T>A (n.2960-2642T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800781G>A | CA429086480 | LCT | c.4692C>T (p.Pro1564=) c.2960-2643C>T (n.2960-2643C>T) | |
2 | g.135800781G>C | CA429086479 | LCT | c.4692C>G (p.Pro1564=) c.2960-2643C>G (n.2960-2643C>G) | dbSNP |
2 | g.135800781G>T | CA429086478 | LCT | c.4692C>A (p.Pro1564=) c.2960-2643C>A (n.2960-2643C>A) | |
2 | g.135800785dup | CA1887787 | LCT | c.4692dup (p.Tyr1565LeufsTer13) c.2960-2643dup (n.2960-2643dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800782G>A | CA348593373 | LCT | c.4691C>T (p.Pro1564Leu) c.2960-2644C>T (n.2960-2644C>T) | gnomAD v4 |
2 | g.135800782G>C | CA348593369 | LCT | c.4691C>G (p.Pro1564Arg) c.2960-2644C>G (n.2960-2644C>G) | |
2 | g.135800782G>T | CA348593371 | LCT | c.4691C>A (p.Pro1564His) c.2960-2644C>A (n.2960-2644C>A) | |
2 | g.135800783G>A | CA348593377 | LCT | c.4690C>T (p.Pro1564Ser) c.2960-2645C>T (n.2960-2645C>T) | |
2 | g.135800783G>C | CA348593378 | LCT | c.4690C>G (p.Pro1564Ala) c.2960-2645C>G (n.2960-2645C>G) | |
2 | g.135800783G>T | CA348593382 | LCT | c.4690C>A (p.Pro1564Thr) c.2960-2645C>A (n.2960-2645C>A) | |
2 | g.135800784G>A | CA429086481 | LCT | c.4689C>T (p.Ala1563=) c.2960-2646C>T (n.2960-2646C>T) | |
2 | g.135800784G>C | CA429086482 | LCT | c.4689C>G (p.Ala1563=) c.2960-2646C>G (n.2960-2646C>G) | |
2 | g.135800784G>T | CA429086483 | LCT | c.4689C>A (p.Ala1563=) c.2960-2646C>A (n.2960-2646C>A) | gnomAD v4 |
2 | g.135800785G>A | CA1887788 | LCT | c.4688C>T (p.Ala1563Val) c.2960-2647C>T (n.2960-2647C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800785G>C | CA348593386 | LCT | c.4688C>G (p.Ala1563Gly) c.2960-2647C>G (n.2960-2647C>G) | |
2 | g.135800785G= | CA1290827650 | LCT | c.4688C= (p.Ala1563=) c.2960-2647C= (n.2960-2647C=) | |
2 | g.135800785G>T | CA348593387 | LCT | c.4688C>A (p.Ala1563Asp) c.2960-2647C>A (n.2960-2647C>A) | |
2 | g.135800786C>A | CA348593389 | LCT | c.4687G>T (p.Ala1563Ser) c.2960-2648G>T (n.2960-2648G>T) | |
2 | g.135800786C>G | CA348593391 | LCT | c.4687G>C (p.Ala1563Pro) c.2960-2648G>C (n.2960-2648G>C) | |
2 | g.135800786C>T | CA348593394 | LCT | c.4687G>A (p.Ala1563Thr) c.2960-2648G>A (n.2960-2648G>A) | |
2 | g.135800787A>C | CA429086484 | LCT | c.4686T>G (p.Thr1562=) c.2960-2649T>G (n.2960-2649T>G) | gnomAD v4 |
2 | g.135800787A>G | CA429086485 | LCT | c.4686T>C (p.Thr1562=) c.2960-2649T>C (n.2960-2649T>C) | |
2 | g.135800787A>T | CA429086486 | LCT | c.4686T>A (p.Thr1562=) c.2960-2649T>A (n.2960-2649T>A) | |
2 | g.135800788G>A | CA348593400 | LCT | c.4685C>T (p.Thr1562Ile) c.2960-2650C>T (n.2960-2650C>T) | COSMIC |
2 | g.135800788G>C | CA348593398 | LCT | c.4685C>G (p.Thr1562Ser) c.2960-2650C>G (n.2960-2650C>G) | |
2 | g.135800788G>T | CA348593397 | LCT | c.4685C>A (p.Thr1562Asn) c.2960-2650C>A (n.2960-2650C>A) | |
2 | g.135800789T>A | CA348593402 | LCT | c.4684A>T (p.Thr1562Ser) c.2960-2651A>T (n.2960-2651A>T) | |
2 | g.135800789T>C | CA348593404 | LCT | c.4684A>G (p.Thr1562Ala) c.2960-2651A>G (n.2960-2651A>G) | |
2 | g.135800789T>G | CA348593405 | LCT | c.4684A>C (p.Thr1562Pro) c.2960-2651A>C (n.2960-2651A>C) | |
2 | g.135800790G>A | CA429086487 | LCT | c.4683C>T (p.Gly1561=) c.2960-2652C>T (n.2960-2652C>T) | |
2 | g.135800790G>C | CA429086488 | LCT | c.4683C>G (p.Gly1561=) c.2960-2652C>G (n.2960-2652C>G) | |
2 | g.135800790G>T | CA429086489 | LCT | c.4683C>A (p.Gly1561=) c.2960-2652C>A (n.2960-2652C>A) | |
2 | g.135800791C>A | CA348593406 | LCT | c.4682G>T (p.Gly1561Val) c.2960-2653G>T (n.2960-2653G>T) | COSMIC |
2 | g.135800791C>G | CA348593407 | LCT | c.4682G>C (p.Gly1561Ala) c.2960-2653G>C (n.2960-2653G>C) | |
2 | g.135800791C>T | CA348593409 | LCT | c.4682G>A (p.Gly1561Asp) c.2960-2653G>A (n.2960-2653G>A) | COSMIC |
2 | g.135800792C>A | CA348593411 | LCT | c.4681G>T (p.Gly1561Cys) c.2960-2654G>T (n.2960-2654G>T) | |
2 | g.135800792C>G | CA348593413 | LCT | c.4681G>C (p.Gly1561Arg) c.2960-2654G>C (n.2960-2654G>C) | |
2 | g.135800792C>T | CA348593414 | LCT | c.4681G>A (p.Gly1561Ser) c.2960-2654G>A (n.2960-2654G>A) | gnomAD v4 |
2 | g.135800793A>C | CA429086490 | LCT | c.4680T>G (p.Pro1560=) c.2960-2655T>G (n.2960-2655T>G) | |
2 | g.135800793A>G | CA429086492 | LCT | c.4680T>C (p.Pro1560=) c.2960-2655T>C (n.2960-2655T>C) | |
2 | g.135800793A>T | CA429086491 | LCT | c.4680T>A (p.Pro1560=) c.2960-2655T>A (n.2960-2655T>A) | |
2 | g.135800794G>A | CA348593415 | LCT | c.4679C>T (p.Pro1560Leu) c.2960-2656C>T (n.2960-2656C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800794G>C | CA348593416 | LCT | c.4679C>G (p.Pro1560Arg) c.2960-2656C>G (n.2960-2656C>G) | |
2 | g.135800794G= | CA1290827651 | LCT | c.4679C= (p.Pro1560=) c.2960-2656C= (n.2960-2656C=) | |
2 | g.135800794G>T | CA348593417 | LCT | c.4679C>A (p.Pro1560His) c.2960-2656C>A (n.2960-2656C>A) | |
2 | g.135800795G>A | CA348593421 | LCT | c.4678C>T (p.Pro1560Ser) c.2960-2657C>T (n.2960-2657C>T) | |
2 | g.135800795G>C | CA348593423 | LCT | c.4678C>G (p.Pro1560Ala) c.2960-2657C>G (n.2960-2657C>G) | |
2 | g.135800795G>T | CA348593419 | LCT | c.4678C>A (p.Pro1560Thr) c.2960-2657C>A (n.2960-2657C>A) | |
2 | g.135800796C>A | CA348593427 | LCT | c.4677G>T (p.Arg1559Ser) c.2960-2658G>T (n.2960-2658G>T) | |
2 | g.135800796C>G | CA348593425 | LCT | c.4677G>C (p.Arg1559Ser) c.2960-2658G>C (n.2960-2658G>C) | |
2 | g.135800796C>T | CA429086493 | LCT | c.4677G>A (p.Arg1559=) c.2960-2658G>A (n.2960-2658G>A) | |
2 | g.135800797C>A | CA348593428 | LCT | c.4676G>T (p.Arg1559Met) c.2960-2659G>T (n.2960-2659G>T) | |
2 | g.135800797C>G | CA348593430 | LCT | c.4676G>C (p.Arg1559Thr) c.2960-2659G>C (n.2960-2659G>C) | COSMIC |
2 | g.135800797C>T | CA348593432 | LCT | c.4676G>A (p.Arg1559Lys) c.2960-2659G>A (n.2960-2659G>A) | |
2 | g.135800798T>A | CA348593434 | LCT | c.4675A>T (p.Arg1559Trp) c.2960-2660A>T (n.2960-2660A>T) | |
2 | g.135800798T>C | CA348593435 | LCT | c.4675A>G (p.Arg1559Gly) c.2960-2660A>G (n.2960-2660A>G) | gnomAD v4 |
2 | g.135800798T>G | CA429086494 | LCT | c.4675A>C (p.Arg1559=) c.2960-2660A>C (n.2960-2660A>C) | |
2 | g.135800799A= | CA1290827652 | LCT | c.4674T= (p.Asn1558=) c.2960-2661T= (n.2960-2661T=) | |
2 | g.135800799A>C | CA348593437 | LCT | c.4674T>G (p.Asn1558Lys) c.2960-2661T>G (n.2960-2661T>G) | |
2 | g.135800799A>G | CA429086495 | LCT | c.4674T>C (p.Asn1558=) c.2960-2661T>C (n.2960-2661T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800799A>T | CA348593439 | LCT | c.4674T>A (p.Asn1558Lys) c.2960-2661T>A (n.2960-2661T>A) | dbSNP |
2 | g.135800800T>A | CA348593441 | LCT | c.4673A>T (p.Asn1558Ile) c.2960-2662A>T (n.2960-2662A>T) | dbSNP |
2 | g.135800800T>C | CA56606988 | LCT | c.4673A>G (p.Asn1558Ser) c.2960-2662A>G (n.2960-2662A>G) | dbSNP |
2 | g.135800800T>G | CA348593444 | LCT | c.4673A>C (p.Asn1558Thr) c.2960-2662A>C (n.2960-2662A>C) | |
2 | g.135800800T= | CA1290827653 | LCT | c.4673A= (p.Asn1558=) c.2960-2662A= (n.2960-2662A=) | |
2 | g.135800801T>A | CA348593449 | LCT | c.4672A>T (p.Asn1558Tyr) c.2960-2663A>T (n.2960-2663A>T) | |
2 | g.135800801T>C | CA1887789 | LCT | c.4672A>G (p.Asn1558Asp) c.2960-2663A>G (n.2960-2663A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800801T>G | CA348593446 | LCT | c.4672A>C (p.Asn1558His) c.2960-2663A>C (n.2960-2663A>C) | |
2 | g.135800801T= | CA1290827654 | LCT | c.4672A= (p.Asn1558=) c.2960-2663A= (n.2960-2663A=) | |
2 | g.135800802G>A | CA1887790 | LCT | c.4671C>T (p.Ser1557=) c.2960-2664C>T (n.2960-2664C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800802G>C | CA429086496 | LCT | c.4671C>G (p.Ser1557=) c.2960-2664C>G (n.2960-2664C>G) | |
2 | g.135800802G= | CA1290827655 | LCT | c.4671C= (p.Ser1557=) c.2960-2664C= (n.2960-2664C=) | |
2 | g.135800802G>T | CA429086497 | LCT | c.4671C>A (p.Ser1557=) c.2960-2664C>A (n.2960-2664C>A) | dbSNP |
2 | g.135800803G>A | CA56607007 | LCT | c.4670C>T (p.Ser1557Phe) c.2960-2665C>T (n.2960-2665C>T) | dbSNP |
2 | g.135800803G>C | CA348593453 | LCT | c.4670C>G (p.Ser1557Cys) c.2960-2665C>G (n.2960-2665C>G) | |
2 | g.135800803G= | CA1290827656 | LCT | c.4670C= (p.Ser1557=) c.2960-2665C= (n.2960-2665C=) | |
2 | g.135800803G>T | CA348593455 | LCT | c.4670C>A (p.Ser1557Tyr) c.2960-2665C>A (n.2960-2665C>A) | |
2 | g.135800804A>C | CA348593456 | LCT | c.4669T>G (p.Ser1557Ala) c.2960-2666T>G (n.2960-2666T>G) | |
2 | g.135800804A>G | CA348593458 | LCT | c.4669T>C (p.Ser1557Pro) c.2960-2666T>C (n.2960-2666T>C) | |
2 | g.135800804A>T | CA348593460 | LCT | c.4669T>A (p.Ser1557Thr) c.2960-2666T>A (n.2960-2666T>A) | COSMIC |
2 | g.135800805G>A | CA429086498 | LCT | c.4668C>T (p.Val1556=) c.2960-2667C>T (n.2960-2667C>T) | dbSNP gnomAD v4 |
2 | g.135800805G>C | CA429086499 | LCT | c.4668C>G (p.Val1556=) c.2960-2667C>G (n.2960-2667C>G) | |
2 | g.135800805G= | CA1290827657 | LCT | c.4668C= (p.Val1556=) c.2960-2667C= (n.2960-2667C=) | |
2 | g.135800805G>T | CA429086500 | LCT | c.4668C>A (p.Val1556=) c.2960-2667C>A (n.2960-2667C>A) | |
2 | g.135800806A>C | CA348593462 | LCT | c.4667T>G (p.Val1556Gly) c.2960-2668T>G (n.2960-2668T>G) | |
2 | g.135800806A>G | CA348593463 | LCT | c.4667T>C (p.Val1556Ala) c.2960-2668T>C (n.2960-2668T>C) | |
2 | g.135800806A>T | CA348593465 | LCT | c.4667T>A (p.Val1556Asp) c.2960-2668T>A (n.2960-2668T>A) | |
2 | g.135800807C>A | CA348593466 | LCT | c.4666G>T (p.Val1556Phe) c.2960-2669G>T (n.2960-2669G>T) | |
2 | g.135800807C>G | CA348593468 | LCT | c.4666G>C (p.Val1556Leu) c.2960-2669G>C (n.2960-2669G>C) | |
2 | g.135800807C>T | CA348593469 | LCT | c.4666G>A (p.Val1556Ile) c.2960-2669G>A (n.2960-2669G>A) | dbSNP |
2 | g.135800808T>A | CA429086501 | LCT | c.4665A>T (p.Gly1555=) c.2960-2670A>T (n.2960-2670A>T) | gnomAD v4 |
2 | g.135800808T>C | CA429086503 | LCT | c.4665A>G (p.Gly1555=) c.2960-2670A>G (n.2960-2670A>G) | |
2 | g.135800808T>G | CA429086502 | LCT | c.4665A>C (p.Gly1555=) c.2960-2670A>C (n.2960-2670A>C) | |
2 | g.135800809C>A | CA348593474 | LCT | c.4664G>T (p.Gly1555Val) c.2960-2671G>T (n.2960-2671G>T) | dbSNP gnomAD v2 |
2 | g.135800809C= | CA1290827658 | LCT | c.4664G= (p.Gly1555=) c.2960-2671G= (n.2960-2671G=) | |
2 | g.135800809C>G | CA348593475 | LCT | c.4664G>C (p.Gly1555Ala) c.2960-2671G>C (n.2960-2671G>C) | |
2 | g.135800809C>T | CA348593471 | LCT | c.4664G>A (p.Gly1555Glu) c.2960-2671G>A (n.2960-2671G>A) | |
2 | g.135800810C>A | CA348593478 | LCT | c.4664-1G>T (n.4664-1G>T) c.2960-2672G>T (n.2960-2672G>T) | |
2 | g.135800810C>G | CA348593479 | LCT | c.4664-1G>C (n.4664-1G>C) c.2960-2672G>C (n.2960-2672G>C) | |
2 | g.135800810C>T | CA348593481 | LCT | c.4664-1G>A (n.4664-1G>A) c.2960-2672G>A (n.2960-2672G>A) | |
2 | g.135800811T>A | CA348593482 | LCT | c.4664-2A>T (n.4664-2A>T) c.2960-2673A>T (n.2960-2673A>T) | |
2 | g.135800811T>C | CA348593485 | LCT | c.4664-2A>G (n.4664-2A>G) c.2960-2673A>G (n.2960-2673A>G) | |
2 | g.135800811T>G | CA348593487 | LCT | c.4664-2A>C (n.4664-2A>C) c.2960-2673A>C (n.2960-2673A>C) | |
2 | g.135800812G>A | CA2661274856 | LCT | c.4664-3C>T (n.4664-3C>T) c.2960-2674C>T (n.2960-2674C>T) | gnomAD v4 |
2 | g.135800813G>A | CA2577107882 | LCT | c.4664-4C>T (n.4664-4C>T) c.2960-2675C>T (n.2960-2675C>T) | |
2 | g.135800814A= | CA1290827659 | LCT | c.4664-5T= (n.4664-5T=) c.2960-2676T= (n.2960-2676T=) | |
2 | g.135800814A>G | CA1887791 | LCT | c.4664-5T>C (n.4664-5T>C) c.2960-2676T>C (n.2960-2676T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800817C>T | CA2740321304 | LCT | c.4664-8G>A (n.4664-8G>A) c.2960-2679G>A (n.2960-2679G>A) | |
2 | g.135800818A>C | CA2661274860 | LCT | c.4664-9T>G (n.4664-9T>G) c.2960-2680T>G (n.2960-2680T>G) | gnomAD v4 |
2 | g.135800819T>C | CA1139657217 | LCT | c.4664-10A>G (n.4664-10A>G) c.2960-2681A>G (n.2960-2681A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.135800819T= | CA1290827660 | LCT | c.4664-10A= (n.4664-10A=) c.2960-2681A= (n.2960-2681A=) | |
2 | g.135800821C>A | CA2661274864 | LCT | c.4664-12G>T (n.4664-12G>T) c.2960-2683G>T (n.2960-2683G>T) | gnomAD v4 |
2 | g.135800821C>T | CA2661274866 | LCT | c.4664-12G>A (n.4664-12G>A) c.2960-2683G>A (n.2960-2683G>A) | gnomAD v4 |
2 | g.135800821_135800833delinsCACATGGATGTCA | CA1290827661 | LCT | c.4664-24_4664-12delinsTGACATCCATGTG (n.4664-24_4664-12delinsTGACATCCATGTG) c.2960-2695_2960-2683delinsTGACATCCATGTG (n.2960-2695_2960-2683delinsTGACATCCATGTG) | |
2 | g.135800822A= | CA1290827663 | LCT | c.4664-13T= (n.4664-13T=) c.2960-2684T= (n.2960-2684T=) | |
2 | g.135800822A>G | CA1290827664 | LCT | c.4664-13T>C (n.4664-13T>C) c.2960-2684T>C (n.2960-2684T>C) | dbSNP |
2 | g.135800825_135800836del | CA1290827662 | LCT | c.4664-24_4664-13del (n.4664-24_4664-13del) c.2960-2695_2960-2684del (n.2960-2695_2960-2684del) | dbSNP |
2 | g.135800823C= | CA1290827665 | LCT | c.4664-14G= (n.4664-14G=) c.2960-2685G= (n.2960-2685G=) | |
2 | g.135800823C>T | CA1036797305 | LCT | c.4664-14G>A (n.4664-14G>A) c.2960-2685G>A (n.2960-2685G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135800824A>G | CA2661274868 | LCT | c.4664-15T>C (n.4664-15T>C) c.2960-2686T>C (n.2960-2686T>C) | gnomAD v4 |
2 | g.135800826G>A | CA2661274870 | LCT | c.4664-17C>T (n.4664-17C>T) c.2960-2688C>T (n.2960-2688C>T) | gnomAD v4 |
2 | g.135800826G= | CA1290827666 | LCT | c.4664-17C= (n.4664-17C=) c.2960-2688C= (n.2960-2688C=) | |
2 | g.135800826G>T | CA1290827667 | LCT | c.4664-17C>A (n.4664-17C>A) c.2960-2688C>A (n.2960-2688C>A) | dbSNP gnomAD v4 |
2 | g.135800827G= | CA1290827668 | LCT | c.4664-18C= (n.4664-18C=) c.2960-2689C= (n.2960-2689C=) | |
2 | g.135800827G>T | CA536394712 | LCT | c.4664-18C>A (n.4664-18C>A) c.2960-2689C>A (n.2960-2689C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800828A>T | CA2661274871 | LCT | c.4664-19T>A (n.4664-19T>A) c.2960-2690T>A (n.2960-2690T>A) | gnomAD v4 |
2 | g.135800829T>A | CA536394713 | LCT | c.4664-20A>T (n.4664-20A>T) c.2960-2691A>T (n.2960-2691A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.135800829T= | CA1290827669 | LCT | c.4664-20A= (n.4664-20A=) c.2960-2691A= (n.2960-2691A=) | |
2 | g.135800830G>T | CA2661274875 | LCT | c.4664-21C>A (n.4664-21C>A) c.2960-2692C>A (n.2960-2692C>A) | gnomAD v4 |
2 | g.135800832C= | CA1290827670 | LCT | c.4664-23G= (n.4664-23G=) c.2960-2694G= (n.2960-2694G=) | |
2 | g.135800832C>G | CA1887792 | LCT | c.4664-23G>C (n.4664-23G>C) c.2960-2694G>C (n.2960-2694G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800833A>C | CA2661274876 | LCT | c.4664-24T>G (n.4664-24T>G) c.2960-2695T>G (n.2960-2695T>G) | gnomAD v4 |
2 | g.135800834A>G | CA2577107883 | LCT | c.4664-25T>C (n.4664-25T>C) c.2960-2696T>C (n.2960-2696T>C) | |
2 | g.135800835_135800836delinsCA | CA1290827671 | LCT | c.4664-27_4664-26delinsTG (n.4664-27_4664-26delinsTG) c.2960-2698_2960-2697delinsTG (n.2960-2698_2960-2697delinsTG) | |
2 | g.135800836del | CA1887793 | LCT | c.4664-27del (n.4664-27del) c.2960-2698del (n.2960-2698del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800837G>A | CA2661274878 | LCT | c.4664-28C>T (n.4664-28C>T) c.2960-2699C>T (n.2960-2699C>T) | gnomAD v4 |
2 | g.135800837G>T | CA2661274880 | LCT | c.4664-28C>A (n.4664-28C>A) c.2960-2699C>A (n.2960-2699C>A) | gnomAD v4 |
2 | g.135800839G>A | CA1887794 | LCT | c.4664-30C>T (n.4664-30C>T) c.2960-2701C>T (n.2960-2701C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800839G>C | CA2577107884 | LCT | c.4664-30C>G (n.4664-30C>G) c.2960-2701C>G (n.2960-2701C>G) | |
2 | g.135800839G= | CA1290827672 | LCT | c.4664-30C= (n.4664-30C=) c.2960-2701C= (n.2960-2701C=) | |
2 | g.135800839G>T | CA2661274887 | LCT | c.4664-30C>A (n.4664-30C>A) c.2960-2701C>A (n.2960-2701C>A) | gnomAD v4 |
2 | g.135800841A>G | CA2661274889 | LCT | c.4664-32T>C (n.4664-32T>C) c.2960-2703T>C (n.2960-2703T>C) | gnomAD v4 |
2 | g.135800842T>A | CA2661274891 | LCT | c.4664-33A>T (n.4664-33A>T) c.2960-2704A>T (n.2960-2704A>T) | gnomAD v4 |
2 | g.135800843G= | CA1290827673 | LCT | c.4664-34C= (n.4664-34C=) c.2960-2705C= (n.2960-2705C=) | |
2 | g.135800843G>T | CA1887795 | LCT | c.4664-34C>A (n.4664-34C>A) c.2960-2705C>A (n.2960-2705C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800845A= | CA1290827674 | LCT | c.4664-36T= (n.4664-36T=) c.2960-2707T= (n.2960-2707T=) | |
2 | g.135800845A>T | CA1887796 | LCT | c.4664-36T>A (n.4664-36T>A) c.2960-2707T>A (n.2960-2707T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135800846T>C | CA2661274896 | LCT | c.4664-37A>G (n.4664-37A>G) c.2960-2708A>G (n.2960-2708A>G) | gnomAD v4 |
2 | g.135800846T>G | CA1887797 | LCT | c.4664-37A>C (n.4664-37A>C) c.2960-2708A>C (n.2960-2708A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135800846T= | CA1290827675 | LCT | c.4664-37A= (n.4664-37A=) c.2960-2708A= (n.2960-2708A=) | |
2 | g.135800848G>C | CA1887798 | LCT | c.4664-39C>G (n.4664-39C>G) c.2960-2710C>G (n.2960-2710C>G) | dbSNP ExAC gnomAD v4 |
2 | g.135800848G= | CA1290827676 | LCT | c.4664-39C= (n.4664-39C=) c.2960-2710C= (n.2960-2710C=) | |
2 | g.135800848G>T | CA536394720 | LCT | c.4664-39C>A (n.4664-39C>A) c.2960-2710C>A (n.2960-2710C>A) | dbSNP gnomAD v2 |